{"id":84494,"date":"2026-04-22T15:50:27","date_gmt":"2026-04-22T13:50:27","guid":{"rendered":"https:\/\/cri1149.fr\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\/"},"modified":"2026-10-19T18:00:47","modified_gmt":"2026-10-19T16:00:47","slug":"a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults","status":"publish","type":"post","link":"https:\/\/cri1149.fr\/en\/news\/news-of-the-month\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\/","title":{"rendered":"A mutation in the DKC1 gene associated with severe pulmonary fibrosis in adults"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">This article by the <a href=\"https:\/\/cri1149.fr\/en\/equipes\/mailleux-crestani\/\">Mailleux\/Crestani<\/a> team focuses on adult patients carrying mutations in the <em>DKC1<\/em> gene, a gene important for cell stability and telomere maintenance. The authors show that these mutations may be associated with severe <strong>interstitial lung disease<\/strong>, which is often diagnosed at a relatively early stage and generally has a poor prognosis. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?Db=pubmed&amp;Cmd=ShowDetailView&amp;TermToSearch=31130511\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/p>\n\n<p class=\"wp-block-paragraph\">The key point is that the disease does not only affect the lungs. Patients often also show visible signs on their skin, nails, hair, mouth or teeth, which can help to raise suspicion of the diagnosis at an earlier stage. In the study, several patients also had abnormalities in their blood, suggesting that the condition may be more widespread than a simple lung disease.  <a rel=\"noreferrer noopener\" target=\"_blank\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?Db=pubmed&amp;Cmd=ShowDetailView&amp;TermToSearch=31130511\"><\/a><\/p>\n\n<p class=\"wp-block-paragraph\">In practice, the article highlights the importance of considering a genetic cause in adult patients with pulmonary fibrosis, particularly when it is accompanied by \u2018extrapulmonary\u2019 signs such as premature greying of the hair, brittle nails or pigmentation abnormalities.<a rel=\"noreferrer noopener\" target=\"_blank\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?Db=pubmed&amp;Cmd=ShowDetailView&amp;TermToSearch=31130511\"><\/a><\/p>\n\n<p class=\"wp-block-paragraph\">The main message is therefore as follows: <strong>mutations in <em>DKC1<\/em> can cause severe pulmonary fibrosis in adults, with a poor prognosis, and certain clinical signs may help to identify it at an earlier stage<\/strong>.<\/p>\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/cri1149.fr\/en\/publication\/adult-male-patients-with-dkc1-mutations-present-early-onset-pulmonary-fibrosis-and-severe-prognosis\/\">https:\/\/cri1149.fr\/publication\/les-patients-adultes-de-sexe-masculin-porteurs-de-mutations-du-gene-dkc1-presentent-une-fibrose-pulmonaire-dapparition-precoce-et-un-pronostic-severe<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This article by the Mailleux\/Crestani team focuses on adult patients carrying mutations in the DKC1 gene, a gene important for cell stability and telomere maintenance. The authors show that these mutations may be associated with severe interstitial lung disease, which is often diagnosed at a relatively early stage and generally has a poor prognosis. The [&hellip;]<\/p>\n","protected":false},"author":9,"featured_media":84495,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[328],"tags":[],"class_list":["post-84494","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news-of-the-month"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A mutation in the DKC1 gene associated with severe pulmonary fibrosis in adults - CRI<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/cri1149.fr\/en\/news\/news-of-the-month\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A mutation in the DKC1 gene associated with severe pulmonary fibrosis in adults - CRI\" \/>\n<meta property=\"og:description\" content=\"This article by the Mailleux\/Crestani team focuses on adult patients carrying mutations in the DKC1 gene, a gene important for cell stability and telomere maintenance. The authors show that these mutations may be associated with severe interstitial lung disease, which is often diagnosed at a relatively early stage and generally has a poor prognosis. The [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/cri1149.fr\/en\/news\/news-of-the-month\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\/\" \/>\n<meta property=\"og:site_name\" content=\"CRI\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/CRI-Centre-de-recherche-sur-linflammation-100116118884153\" \/>\n<meta property=\"article:published_time\" content=\"2026-04-22T13:50:27+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-10-19T16:00:47+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/cri1149.fr\/wp-content\/uploads\/2026\/04\/00417-2025.02.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"797\" \/>\n\t<meta property=\"og:image:height\" content=\"1016\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Julien Tourneur-Marsille\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Julien Tourneur-Marsille\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/cri1149.fr\\\/en\\\/news\\\/news-of-the-month\\\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/cri1149.fr\\\/en\\\/news\\\/news-of-the-month\\\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\\\/\"},\"author\":{\"name\":\"Julien Tourneur-Marsille\",\"@id\":\"https:\\\/\\\/cri1149.fr\\\/#\\\/schema\\\/person\\\/8d52142957854ee6b1081a095b93ffb6\"},\"headline\":\"A mutation in the DKC1 gene associated with severe pulmonary fibrosis in adults\",\"datePublished\":\"2026-04-22T13:50:27+00:00\",\"dateModified\":\"2026-10-19T16:00:47+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/cri1149.fr\\\/en\\\/news\\\/news-of-the-month\\\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\\\/\"},\"wordCount\":210,\"publisher\":{\"@id\":\"https:\\\/\\\/cri1149.fr\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/cri1149.fr\\\/en\\\/news\\\/news-of-the-month\\\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/cri1149.fr\\\/wp-content\\\/uploads\\\/2026\\\/04\\\/00417-2025.02.jpg\",\"articleSection\":[\"News of the month\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/cri1149.fr\\\/en\\\/news\\\/news-of-the-month\\\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\\\/\",\"url\":\"https:\\\/\\\/cri1149.fr\\\/en\\\/news\\\/news-of-the-month\\\/a-mutation-in-the-dkc1-gene-associated-with-severe-pulmonary-fibrosis-in-adults\\\/\",\"name\":\"A mutation in the DKC1 gene associated with severe pulmonary fibrosis in adults - 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